Ua ʻike anei ʻoe i kahi mea kupanaha e pili ana i ka helehelena o kāu keiki liʻiliʻi? Malia paha ua mamao iki kona mau maka, a ua pōkole iki paha kona ʻāʻī... Inā lohi iki ka ulu ʻana o kāu keiki me kēia mau mea, ʻo ke kumu paha he maʻi āu i lohe ʻole ai i kapa ʻia ʻo 'Noonan Syndrome.' Mai hopohopo, ʻaʻole kēia he mea i ʻike nui ʻia e ka poʻe. No laila e kamaʻilio wale kākou e pili ana i kēia lā.
He aha maoli ka Noonan Syndrome?
I ka ʻōlelo maʻalahi, ʻo ka maʻi Noonan kahi maʻi genetic i hānau ʻia me ke keiki. Hiki i kēia ke hoʻopilikia i ka ulu ʻana o nā ʻāpana like ʻole o ke kino o ke keiki. Loaʻa i kekahi mau keiki nā hōʻailona liʻiliʻi loa ma muli o kēia maʻi. ʻO ia hoʻi, ʻaʻole lākou e ʻike ʻia ma waho. Eia nō naʻe, hiki i kekahi mau keiki ke loaʻa nā pilikia olakino koʻikoʻi .
Ma kēia kūlana, hiki i ke keiki ke loaʻa nā hiʻohiʻona helehelena kūikawā (e laʻa me ka lae ākea, nā maka ākea), ke kino pōkole (kūlana pōkole), nā pilikia maka, a me nā kīnā puʻuwai hānau.
ʻO ka mea nui, ʻoiai ʻaʻohe lāʻau lapaʻau kūikawā no ka maʻi Noonan, nui nā lāʻau lapaʻau a me nā alakaʻi kūpono e hiki ke kōkua i kāu keiki e noho olakino. E wehewehe kāu kauka i nā mea āpau e pono ai ʻoe a me kāu keiki e ʻike.
ʻO wai ka mea i loaʻa i kēia maʻi? Pehea ka maʻamau?
ʻO ka maʻi Noonan kahi maʻi e hiki ke loaʻa i ka wā hānau i loko o kekahi. ʻAʻole ia i hana ʻia e ka hewa o kekahi.
- Hoʻoilina mai nā mākua: Ma kahi o 50% o nā keiki me ka maʻi Noonan he makua ko lākou me ke ʻano. ʻO ke ʻano kēia, inā loaʻa i kekahi o nā mākua ke ʻano, he 50% ka manawa e hoʻoilina ai ke keiki.
- Hanana maʻamau: I kekahi manawa, hiki ke hana ʻia kēia ʻano ma muli o kahi loli maʻamau (mutation spontaneous) i loko o nā genes o ke keiki, me ka ʻole o kekahi o ka ʻohana i loaʻa i ke ʻano.
ʻAʻole kēia he maʻi laha ʻole e like me kou manaʻo. Ma ka awelika, hoʻokahi i loko o 1,000 a 2,500 pēpē i hānau ʻia ua hoʻopilikia ʻia e kēia maʻi.
He aha ke kumu o ka maʻi Noonan?
Aia kekahi mau genes kikoʻī e haʻi aku i nā ʻiʻo o ko kākou kino e ulu a māhelehele. Hoʻokumu pinepine ʻia ka maʻi Noonan e nā loli (`mutations`) i loko o kēia mau genes. Ma muli o kēia loli, noho mau nā protein i hana ʻia e kēlā mau genes no ka lōʻihi ma mua o ka mea e pono ai. Ua like ia me ke kukui e noho mau ana ma kahi o ka pio ʻana i ka wā e pono ai. Hoʻopilikia kēia i ka ulu maʻamau a me ka māhele ʻana o nā cell.
Aia kekahi mau kūlana ʻē aʻe e like me kēia?
ʻAe, ʻo ka maʻi Noonan kahi maʻi e pili ana i kahi hui o nā maʻi i kapa ʻia ʻo `RASopathies`. Loaʻa i nā maʻi ʻē aʻe o kēia hui nā kumu genetic like. No laila, like pinepine kā lākou mau hōʻailona kekahi i kekahi.
Eia kekahi mau kūlana:
- ʻO ka maʻi ʻili puʻuwai
- ʻO ka maʻi Costello
- ʻO ke ʻano neurofibromatosis ʻano 1 (NF1)
- ʻO ka maʻi Legius
- ʻO ka maʻi Turner
He aha nā hōʻailona o ka maʻi Noonan?
Hiki ke ʻokoʻa loa nā hōʻailona mai kekahi keiki a i kekahi. Loaʻa paha i kekahi mau keiki nā hōʻailona palupalu loa, aʻo kekahi poʻe he mau hōʻailona koʻikoʻi a hoʻoweliweli i ke ola. Hoʻomaka ka nui o nā hōʻailona i loko o ka ʻōpū a i ʻole e ʻike ʻia ma mua o ka 11 o ko lākou mau makahiki.
Akā ʻo ka mea maikaʻi, i ka ulu ʻana o ke keiki, e mae mālie ana nā hiʻohiʻona ʻokoʻa o kona helehelena.
No ka maʻalahi o ka hoʻomaopopo ʻana, e puʻunaue kākou i kēia mau ʻano i kekahi mau papa.
| Nā hiʻohiʻona helehelena i ʻike ʻia | |
|---|---|
| Lae | ʻO kahi o ka lae kiʻekiʻe a ākea. |
| Nā maka | Ka hoʻonui ʻana o ka hakahaka ma waena o nā maka, ka hiolo ʻana o nā maka i lalo, ke kūlou ʻana o nā lihilihi maka (ptosis) , strabismus , nā maka polū māmā a ʻōmaʻomaʻo paha. |
| Ihu | He ihu pālahalaha a me nā puka ihu ākea. |
| Nā pepeiao | Nā pepeiao i lalo o ka pae maʻamau. |
| Lehelehe luna | He lua hohonu ma waenakonu o ka lehelehe luna. |
| Nā hōʻailona maʻamau ʻē aʻe e ʻike ʻia ma ke kino | |
|---|---|
| ʻĀʻī | He ʻāʻī pōkole, me nā ʻāpana ʻili keu (ʻupena) ma nā ʻaoʻao ʻelua o ka ʻāʻī. |
| Kiʻekiʻe | Kino pōkole. |
| Umauma | He pahu poho (pectus excavatum) a i ʻole ka pahu puka (pectus carinatum) . |
| Nā manamana lima a me nā kui | Nā manamana lima a me nā manamana wāwae pehu, nā kui i ke ʻano ʻē a i ʻole ke kala ʻole. |
Nā pilikia e pili ana i ka puʻuwai
He nui nā keiki me ka maʻi Noonan e loaʻa paha i ka maʻi puʻuwai hānau. Pono paha kekahi mau keiki i ka lāʻau koke . Hiki i kekahi mau keiki ke loaʻa i ka maʻi puʻuwai ma hope o ke ola. ʻO nā maʻi puʻuwai maʻamau:
- He lua ma waena o ka atria o ka puʻuwai (atrial septal defect).
- Ka mānoanoa o ka ʻiʻo o ka puʻuwai (Hypertrophic cardiomyopathy).
- ʻO ka stenosis o ke aʻa puʻuwai.
Nā pilikia olakino ʻē aʻe
- Nā pilikia hanu: No ka laʻana, nā kūlana e like me ka 'laryngomalacia'.
- Ka pehu ʻana o nā lima a me nā wāwae: Hōʻiliʻili ʻana o ka wai (lymphedema) ma muli o kahi pilikia me ka ʻōnaehana lymphatic.
- Nā lohi o ka hoʻomohala ʻana .
- Ke kahe koko maʻalahi a i ʻole ka palapū .
- Ka paʻakikī i ka hānai waiū i ka wā kamaliʻi.
- ʻO nā testicles i iho ʻole i nā keikikāne . Inā ʻaʻole mālama ʻia, hiki i kēia ke alakaʻi i ka hānau ʻole ʻana i ka wā e hiki mai ana.
- ʻO ke skoliosis .
- Ka hemahema o ka ʻike a i ʻole ka lohe.
- Nā kīnā hānau e pili ana i nā puʻupaʻa.
He aha nā pilikia ʻē aʻe e hele mai me kēia?
He nui nā keiki me ka maʻi Noonan e ulu lohi ana ma mua o ka maʻamau, ʻoiai i ka wā ʻōpio. Eia kekahi, ma kahi o 25% o nā keiki e loaʻa paha nā pilikia aʻo. Eia naʻe, he kakaikahi wale nō ka poʻe i loaʻa nā pilikia noʻonoʻo. ʻO ke ʻano kēia e hiki i ka hapa nui o nā keiki ke aʻo maʻamau. Ma kahi o 10-15% o nā keiki e pono ai ke kākoʻo hoʻonaʻauao kūikawā.
Eia kekahi, he liʻiliʻi loa ka nui o ka pilikia o kekahi mau keiki i ka loaʻa ʻana o kahi maʻi leukemia kamaliʻi i kapa ʻia ʻo 'juvenile myelomonocytic leukemia (JMML)' a i ʻole nā maʻi kanesa ʻē aʻe o ka wā kamaliʻi. Akā, mai hopohopo, he haʻahaʻa loa kēia pilikia, ma 4% i ka makahiki 20.
Pehea e ʻike ai ke kauka i kēia? (Diagnosis)
Hiki paha i kāu kauka ke kānalua i ka maʻi Noonan ma hope o ka nānā kino ʻana i kāu keiki a nīnau e pili ana i kāu mau hōʻailona. No ka hōʻoia ʻana i ka maʻi a me ka hoʻopau ʻana i nā kūlana ʻē aʻe, hiki i kāu kauka ke kauoha i nā hoʻokolohua like ʻole.
Hiki i kēia mau hoʻokolohua ke komo pū me:
- Helu koko piha (CBC)
- X-ray umauma
- Nānā CT
- ʻO kahi hoʻokolohua 'Echocardiogram' e nānā i ka hana o ka puʻuwai
- ʻO kahi hoʻokolohua 'Electrocardiogram (EKG)' e nānā ai i ka hana uila o ka puʻuwai.
- Nā hoʻokolohua genetic
- ʻO ke kiʻi ʻana o ka ultrasound (`Ultrasound`)
Aia kekahi lāʻau lapaʻau no ka maʻi Noonan?
ʻAʻohe lāʻau lapaʻau no ka maʻi Noonan i kēia manawa. Eia nō naʻe, he nui nā lāʻau lapaʻau kūpono e hiki ke kōkua i kāu keiki e hoʻokele i kā lākou mau hōʻailona a ola i kahi ola olakino .
E hoʻomohala ke kime lapaʻau e mālama ana i kāu keiki i kahi hoʻolālā lapaʻau e pili ana i nā hōʻailona o kāu keiki a me ko lākou koʻikoʻi. Hiki i ka hoʻolālā ke komo pū me:
- Nā mea kōkua: Nā mea e like me nā maka aniani a i ʻole nā mea kōkua hoʻolohe.
- Hoʻōla ʻano a ʻōlelo paha .
- Kākoʻo hoʻonaʻauao: Ke hāʻawi nei i ke kākoʻo kūikawā no nā pilikia aʻo.
- Nā lāʻau lapaʻau: Nā lāʻau lapaʻau e mālama ai i nā pilikia o ka puʻuwai, kaohi i ke kahe ʻana o ke koko, a i ʻole e hoʻoikaika i ka ulu lohi.
- Ka lāʻau lapaʻau hormone ulu .
- Nā lāʻau lapaʻau adjunctive: Nā mea e like me ka lāʻau hoʻopaʻa no ka lymphedema (pehu ʻana).
I kekahi mau hihia, hiki i kāu kauka ke ʻōlelo aku i ke ʻoki kino. He mea nui ka ʻike mua ʻana no ka mālama pono ʻana a me ka hahai ʻana.
Pehea lā ka wā e hiki mai ana? A hiki ke pale ʻia kēia?
ʻO kēia ka mea nui loa. ʻO ka hapa nui o ka poʻe me ka maʻi Noonan e ola olakino a kūʻokoʻa. E kōkua ka hui lapaʻau o kāu keiki iā ʻoe e hoʻokele i nā hōʻailona o kāu keiki a pale i nā pilikia.
ʻOiai ua hoʻokumu ʻia kēia ʻano e kahi loli genetic, ʻaʻohe mea hiki iā mākou ke hana e pale aku ai. Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ka maʻi Noonan, hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic prenatal.
He mea maʻamau ka makaʻu i ka wā e loaʻa ai i kahi keiki kahi hōʻailona e like me kēia. Akā e hoʻomanaʻo, ʻo ka hapa nui o nā keiki me ka maʻi Noonan he mau hōʻailona iki ko lākou. Hiki iā lākou ke ola piha a hana. No laila e kamaʻilio me kāu kauka e pili ana i ka lāʻau lapaʻau maikaʻi loa no kāu keiki. ʻO ka hoʻomaka ʻana i ka lāʻau lapaʻau i ka wā mua e hiki ke kōkua i kāu keiki e loaʻa nā hopena olakino maikaʻi loa.
Leka Lawe-Home
- He maʻi hoʻoilina ka maʻi Noonan. ʻAʻole ia i hana ʻia e kekahi hewa o nā mākua.
- Hiki ke ʻokoʻa loa nā hōʻailona mai kekahi keiki a i kekahi keiki. Loaʻa paha i kekahi nā hōʻailona palupalu loa, aʻo kekahi e pono ai ka nānā hou aku.
- He mea nui loa ka ʻike mua ʻana i ka maʻi a hana pū me kahi hui lapaʻau i haku ʻia me nā loea like ʻole.
- ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia ʻano, nui nā lāʻau lapaʻau e hiki ke kōkua i ka hoʻokele maikaʻi ʻana i nā hōʻailona.
- ʻO ka mea nui, me ka nānā pono ʻana a me ka mālama pono ʻana i ke kauka, hiki i ka hapa nui o nā keiki me ka maʻi Noonan ke ola piha, ʻeleu, a olakino hoʻi.
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